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Stat Med. 2012 May 20;31(11-12):1177-89. doi: 10.1002/sim.4391. Epub 2011 Oct 11.

Estimating the number of true discoveries in genome-wide association studies.

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1
Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, 17177, Sweden.

Abstract

Recent genome-wide association studies have reported the discoveries of genetic variants of small to moderate effects. However, most studies of complex diseases face a great challenge because the number of significant variants is less than what is required to explain the disease heritability. A new approach is needed to recognize all potential discoveries in the data. In this paper, we present a practical model-free procedure to estimate the number of true discoveries as a function of the number of top-ranking SNPs together with the confidence bounds. This approach allows a practical methodology of general utility and produces relevant statistical quantities with simple interpretation.

PMID:
21987428
DOI:
10.1002/sim.4391
[Indexed for MEDLINE]
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